Medullary cystic kidney disease 2 (i.e., “MCKD2,” Online Mendelian Inheritance in Man Ref. OMIN603860 (available on the Internet at: ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603860) and familial juvenile gouty nephropathy (i.e., “FJGN” Online Mendelian Inheritance in Man Ref. OMIM162000 (available on the Internet at: ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=162000) are autosomal dominant renal diseases characterized by juvenile onset of hyperuricemia, gout, enuresis, and progressive renal failure. Both conditions typically result in death, unless renal trasnsplantation is preformed.
Because clinical features of both MCKD2 and FJGN vary in presence and severity, definitive diagnosis of both conditions is difficult before the onset of significant pathology. As such, currently, both conditions generally cannot be treated early, and prophylaxis typically is not possible for these conditions. Accordingly, there exists a need for a more sensitive diagnostic method and reagents for diagnosing diseases, such as MCKD2 and FJGN, or the predisposition to develop such diseases